ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.165C>G (p.Val55=)

gnomAD frequency: 0.00005  dbSNP: rs199520186
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726313 SCV000343679 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000406039 SCV000721946 likely benign not specified 2017-08-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV003497843 SCV004279115 likely benign Pyruvate dehydrogenase E2 deficiency 2023-10-16 criteria provided, single submitter clinical testing

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